F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
Disease: Hereditary angioedema with normal C1 esterase inhibitor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552292
Disease: Hereditary angioedema with normal C1 esterase inhibitor
Hereditary angioedema with normal C1 esterase inhibitor 		0.010 GeneticVariation disease BEFREE Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction.It occurs nearly exclusively in women. 27905115 2017